PKU is the rare condition that the baby is born without the ability to break down an amino acid called phenylalanine. This birth defect is rare because it takes 2 parents that are carriers of the disease to have a child and even than its still rare for any of the kids to become anymore than carriers. Babies that are born with PKU are missing an enzyme called phenylalanine hydroxylase which are needed to break down the essential amino acid called phenylalanine. The amino acid phenylalanine is found in foods that contain protein such as meats and fish and other types of food that contain protein. Without this amino acid your body starts to build up high levels of phenylalanine which are harmful to the central nervous system and can cause brain damage.

This disease affects your melin which is what decides your hair and skin colors this disease has symptoms that are more obvious than others some symptoms are * Delayed mental and social skills

PKU is actually a treatable birth defect un like most really all you have to do is follow a strict diet. Also when a baby use a special formula and it can be used for the rest of your life for protein source without phenylalanine if you follow this diet than its easy to have a long and healthy life. People with PKU normally look perfectly fine only difference could be lighter skin and lighter hair than brothers

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...Donald Vado
Jan, 27, 2012
p.3
Phenylketonuria
What is phenylketonuria ?
Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (amino acids) that is obtained through diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.
What are the symptoms of PKU?
The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU.
Infants with classic PKU appear normal until they are a few months old. Without treatment with a special low-phenylalanine diet, these children develop permanent intellectual disability.
Seizures, delayed development, behavioral problems, and psychiatric disorders are also common.
Untreated individuals may have a musty or mouse-like odor as a side effect of excess phenylalanine in the body.
Children with classic PKU tend to have lighter skin and hair than unaffected family members and are also likely to have skin disorders such as eczema
Less severe forms of this condition, sometimes called variant PKU and non-PKU hyperphenylalanimemia, have a...

...PhenylketonuriaPhenylketonuria is described as a metabolic genetic disorder. This disorder is characterized by the lack of production of the enzyme phenylalanine hydroxylase. This enzyme is used to break down the amino acid phenylalanine into tyrosine. Without this enzyme, the body cannot break down and waster phenylalanine, therefore it accumulates in the bloodstream. This accumulation of phenylalanine in the blood can spread to the brain and create a toxic effect. This paper is to describe, in detail, some of the pathophysiological facts of phenylketonuria.
Phenylketonuria is a genetic disorder, so it is spread through genes. This disorder is described as an autosomal recessive disorder. This means that two copies of the abnormal gene must be present for the disorder to manifest. If a person has only one mutated gene, this means that the person is a carrier of the gene and could pass it on to their children. If both parents carry the gene, this means that their offspring have a 1 in 4 chance of having the disorder, and a 1 in 2 chance. This means that if the mother has the mutated gene and the father has the mutated gene, their offspring has 25% chance of having the disorder and a 50% chance of passing the mutated gene on and making their offspring a carrier. According to the National PKU Alliance, approximately 1 in every 50 people are carriers of the mutated gene that causes...

...Phenylketonuria (PKU)
a) Discuss in molecular detail the genetic and biochemical basis for PKU.
Phenylketonuria (an inborn error of metabolism) is characterized by mutations of the phenylalanine hydroxylase (PAH) gene. PAH converts phenylalanine (essential amino acid) into tyrosine and requires the cofactor tetrahydrobiopterin (BH4), molecular oxygen, and iron to do so. Loss of PAH activity results in increased concentrations of phenylalanine in the blood and toxic concentrations in the brain, causing mental retardation.
During the hydroxylation of phenylalanine, by phenylalanine hydroxylase (PAH), and when molecular oxygen (O2) and iron (Fe2+) are present, tetrahydrobiopterin (BH4) is oxidized to a 4a-hydroxy-BH4 intermediate. This intermediate is subsequently regenerated back to BH4 via quinonoid (q) dihydrobiopterin, by the enzymes carbinolamie-4adehydratase (PCD), and by the NADH-dependent dihydropteridine reductase (DHPR). BH4 is synthesized from guanosine triphosphate (GTP) by three additional enzymes GTP cyclohydrolase I (GTPCH), 6-pyruvoyl-tetrahydropterin synthase (PTPS), and sepiapterin reductase (SR). Mutations in genes coding for PCD, DHPR, GTPCH, PTPS, and SR result in BH4 deficiency. Therefore, hyperphenylalaninaemia is due to mutations in genes coding for enzymes involved in BH4 biosynthesis or regeneration.
The PAH gene consists of 13 exons and their requisite introns....

...Joselin Ramirez March 7, 2012
Phenylketonuria (PKU)
Phenylketonuria is a disease that was discovered by Dr. Asbjorn Folling in 1934. It is known that 1 out of 13,000/19,000 babies are born with this type of disease. Most people with Phenylketonuria can live healthy as everyone else. If the low phenylalanine diet is started when they are babies and continued for the rest of their lives. The symptoms will usually disappear after the diet is started. What doctors’ state about Phenylketonuria is “Phenylketonuria cannot process a part of protein called phenylalanine, which is present in most foods. Because of a genetic abnormality, affected individuals lack or have very low levels of an enzyme (phenylalanine hydroxylase or PAH) that converts phenylalanine to other substances the body needs. Without treatment, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation.”
The way that Phenylketonuria is diagnosed is that when a new born baby is born in the U.S or any other country. The doctor pricks on the babies hand or heel to collect blood and puts a few blood drops on a filter paper. After the filter paper, the doctors put it in a plate of bacteria. This kind of bacteria can’t grow without Phenylketonuria. If the bacteria does grow the baby does have phenylketonuria. And the bigger the blood spot gets the...

...Imagine not being able to eat meat, ever. Phenylketonuria, is an autosomal recessive trait that causes the levels of phenylalanine to rise in the blood, it causes inability to digest proteins (NIH). Phenylketonuria is also referred to as PKU, Folling`s disease, and PAH deficiency. Delayed mental and social skills, seizures, and tremors are all symptoms of PKU. Behavioral problems, skin rashes, and psychiatric problems are also symptoms. Babies who are born with PKU slowly develop the symptoms, unless if they are treated. PKU is treated by a special diet, and if it is caught early, people affected can live a normal life.
Since PKU is an autosomal recessive trait, both parents have to carry the gene. Both of the parents have to have one PAH gene out of the two that are mutated. When the parents reproduce, half of the cells have the mutated gene. If a sperm and an egg that both contain the mutated gene, the child will have PKU. One out of every ten thousand to fifteen thousand babies is affected by PKU in the United States (NIH). Phenylketonuria is more common in people from Native American and Northern European backgrounds. PKU isn’t as common in people from Africa, Asia, and Hispanic ancestry. It is this way because it is a genetic disease.
PKU is caused by mutations in the gene that helps...

...﻿Cystic fibrosis, PKU and the Digestive system
1. What are the symptoms of cystic fibrosis and PKU with respect to the digestive system?
Symptoms for cystic fibrosis include diarrhea that does not go away, foul-smelling stools, greasy stools, frequent urinating, frequent episodes of Pneumonia, persistent cough, skin tastes like salt, poor growth, chronic sinus infection.
When phenylalanine builds up it affects brain functions and the central nervous system. Some symptoms include: skin problems, neurological impairment, seizures, development delays and mental retardation.
2. How do the conditions affect the functioning of the digestive system?
CF mainly affects the pancreas. In CF, mucus can block tubes, or ducts in your pancreas, these blockages prevent enzymes from reaching your intestines. As a result your intestines cant fully absorb fats and proteins. This can cause ongoing diarrhea or bulky, foul-smelling greasy stools. Intestinal blockages also may occur, especially in new borns.
In people with PKU , a particular enzymes used to break down Phenylalanine doesn’t work so the phenylalanine doesn’t get broken down, so the amino acid builds up in the body and in the brain which can cause growth and development problems.
3. What diet modifications are required for each condition?
People with CF need to eat more than most other people and they usually plan what they eat, it is very important that the meal...